Structural highlights
Disease
DGAT1_HUMAN Congenital chronic diarrhea with protein-losing enteropathy. The disease is caused by mutations affecting the gene represented in this entry.
Function
DGAT1_HUMAN Catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates. In contrast to DGAT2 it is not essential for survival. May be involved in VLDL (very low density lipoprotein) assembly. In liver, plays a role in esterifying exogenous fatty acids to glycerol. Functions as the major acyl-CoA retinol acyltransferase (ARAT) in the skin, where it acts to maintain retinoid homeostasis and prevent retinoid toxicity leading to skin and hair disorders.[1] [2]
References
- ↑ Orland MD, Anwar K, Cromley D, Chu CH, Chen L, Billheimer JT, Hussain MM, Cheng D. Acyl coenzyme A dependent retinol esterification by acyl coenzyme A: diacylglycerol acyltransferase 1. Biochim Biophys Acta. 2005 Oct 15;1737(1):76-82. doi:, 10.1016/j.bbalip.2005.09.003. Epub 2005 Sep 20. PMID:16214399 doi:http://dx.doi.org/10.1016/j.bbalip.2005.09.003
- ↑ Oelkers P, Behari A, Cromley D, Billheimer JT, Sturley SL. Characterization of two human genes encoding acyl coenzyme A:cholesterol acyltransferase-related enzymes. J Biol Chem. 1998 Oct 9;273(41):26765-71. doi: 10.1074/jbc.273.41.26765. PMID:9756920 doi:http://dx.doi.org/10.1074/jbc.273.41.26765
